المؤلفون: Tyler, Tori, Wiggins-McDaniel, Amber, McBroom, Staton, Parry, Caroline, Tyler, Robert, White, Robert A.

المصدر: Student Publications

مصطلحات موضوعية: Adult Hemochromatosis, juvenile hemochromatosis, iron overloading, hemochromatosis management and therapy

وصف الملف: application/pdf

العلاقة: https://digitalcommons.kansascity.edu/studentpub/766Test; https://digitalcommons.kansascity.edu/context/studentpub/article/1765/viewcontent/White2822024BJI115733.pdfTest

الإتاحة: https://doi.org/10.9734/bji/2024/v28i2718Test
https://digitalcommons.kansascity.edu/studentpub/766Test
https://digitalcommons.kansascity.edu/context/studentpub/article/1765/viewcontent/White2822024BJI115733.pdfTest

المؤلفون: Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang, Xiaoping Chen

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-24 (2019)

مصطلحات موضوعية: Iron overload, Hereditary hemochromatosis, Juvenile hemochromatosis, Hemojuvelin, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1097-2Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/8b43b1a472e446828e47c090d7b68caaTest

المؤلفون: Kowdley DS, Kowdley KV

المصدر: The Application of Clinical Genetics, Vol Volume 14, Pp 353-361 (2021)

مصطلحات موضوعية: non-hfe, hemochromatosis, juvenile hemochromatosis, ferroportin disease, transferrin-receptor 2, hamp, hepcidin, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://www.dovepress.com/appropriate-clinical-genetic-testing-ofTest-hemochromatosis-type-24-includ-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704XTest; https://doaj.org/article/a3faf1a578524567b9436b4feac5e82cTest

الإتاحة: https://doaj.org/article/a3faf1a578524567b9436b4feac5e82cTest

المؤلفون: Shamil D. Cooray, Neel M. Heerasing, Laura A. Selkrig, V. Nathan Subramaniam, P. Shane Hamblin, Cameron J. McDonald, Catriona A. McLean, Elissa McNamara, Angeline S. Leet, Stuart K. Roberts

المصدر: Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Juvenile hemochromatosis, Heart failure, Iron chelation therapy, Gene sequencing, Extracorporeal membrane oxygenation, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13256-017-1526-6Test; https://doaj.org/toc/1752-1947Test

الوصول الحر: https://doaj.org/article/69921173d9934776b02e9889662b4529Test

المؤلفون: Kris V. Kowdley, Devan S Kowdley

المصدر: The Application of Clinical Genetics

مصطلحات موضوعية: ferroportin disease, Ferroportin, Review, Bioinformatics, hemochromatosis, transferrin-receptor 2, non-HFE, Hepcidin, HAMP, Genetics, Medicine, Genetics (clinical), Hemochromatosis, Genetic testing, juvenile hemochromatosis, medicine.diagnostic_test, biology, business.industry, nutritional and metabolic diseases, medicine.disease, Juvenile hemochromatosis, Hereditary hemochromatosis, Mutation (genetic algorithm), biology.protein, hepcidin, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cac427406858e9020f8315037a4c598Test
https://doi.org/10.2147/tacg.s269622Test

المؤلفون: Cooray, Shamil D., Heerasing, Neel M., Selkrig, Laura A., Subramaniam, V. Nathan, Hamblin, P. Shane, McDonald, Cameron J., McLean, Catriona A., McNamara, Elissa, Leet, Angeline S., Roberts, Stuart K.

المصدر: Journal of Medical Case Reports

مصطلحات موضوعية: Extracorporeal membrane oxygenation, Gene sequencing, Heart failure, Iron chelation therapy, Juvenile hemochromatosis

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/197595/1/Reversal.pdfTest; Cooray, Shamil D., Heerasing, Neel M., Selkrig, Laura A., Subramaniam, V. Nathan, Hamblin, P. Shane, McDonald, Cameron J., McLean, Catriona A., McNamara, Elissa, Leet, Angeline S., & Roberts, Stuart K. (2018) Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: A case report. Journal of Medical Case Reports, 12, Article number: 18.; https://eprints.qut.edu.au/197595Test/; Faculty of Health

الإتاحة: https://doi.org/10.1186/s13256-017-1526-6Test
https://eprints.qut.edu.au/197595Test/

المؤلفون: Pietrangelo, Antonello

المساهمون: Pietrangelo, Antonello

مصطلحات موضوعية: AUTOSOMAL-DOMINANT HEMOCHROMATOSIS, PRIMARY IRON OVERLOAD, AFRICAN-AMERICAN MAN, HEREDITARY HEMOCHROMATOSIS, SLC40A1 GENE, MISSENSE MUTATION, JUVENILE HEMOCHROMATOSIS, MOLECULAR-MECHANISM, FUNCTIONAL-ANALYSIS, RESPONSIVE ELEMENT

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29101207; info:eu-repo/semantics/altIdentifier/wos/WOS:000416867100017; volume:102; issue:12; firstpage:1972; lastpage:1984; numberofpages:13; journal:HAEMATOLOGICA; http://hdl.handle.net/11380/1153681Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85037039358; http://www.haematologica.org/content/haematol/102/12/1972.full.pdfTest

الإتاحة: https://doi.org/10.3324/haematol.2017.170720Test
http://hdl.handle.net/11380/1153681Test
http://www.haematologica.org/content/haematol/102/12/1972.full.pdfTest

المؤلفون: Morais, SA, du Preez, HE, Akhtar, MR, Cross, S, Isenberg, DA

المصدر: Rheumatology , 55 (6) pp. 968-981. (2016)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Rheumatology, haematological diseases, complications, rheumatic diseases, aetiology, radiography, humans, Sickle-cell-disease, Non-hodgkins-lymphoma, Acute Lymphoblastic-leukemia, Beta-thalassemia Major, Myeloma Bone-disease, Multiple-myeloma, Hereditary Hemochromatosis, Hemophilic Arthropathy, Juvenile Hemochromatosis, Rheumatoid-arthritis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1536415/1/Morais_Musculoskeletal%20complications%20of%20haematological%20disease.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1536415Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1536415/1/Morais_Musculoskeletal%20complications%20of%20haematological%20disease.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1536415Test/

المؤلفون: Gregory J. Anderson, Victor R. Gordeuk, Tracey A. Rouault

المصدر: The Liver

مصطلحات موضوعية: chemistry.chemical_classification, Alcoholic liver disease, Biology, medicine.disease, Juvenile hemochromatosis, Human homeostasis, Iron storage, Iron homeostasis, chemistry, Hepcidin, Transferrin, Immunology, medicine, Transcriptional regulation, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d1566ed4a4daf11952679ab1ec0f22Test
https://doi.org/10.1002/9781119436812.ch19Test

المؤلفون: Masayasu Naito, Seiichiro Hoshino, Tatsuyuki Tonan, Takuji Torimura, Takaaki Ohtake, Toshikatsu Okumura, Takumi Kawaguchi, Hisao Hayashi, Koichi Kato, Yasuaki Tatsumi, Yasumichi Toki, Katsuya Ikuta

المصدر: Hepatology Research. 50:144-150

مصطلحات موضوعية: medicine.medical_specialty, Mutation, Cirrhosis, Hepatology, biology, Transferrin saturation, business.industry, Genetic disorder, medicine.disease, medicine.disease_cause, Juvenile hemochromatosis, 03 medical and health sciences, 0302 clinical medicine, Infectious Diseases, Endocrinology, Hepcidin, 030220 oncology & carcinogenesis, Internal medicine, medicine, biology.protein, 030211 gastroenterology & hepatology, HAMP, business, Hemochromatosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a26fd0e8804cf6280538b1610ca88b2Test
https://doi.org/10.1111/hepr.13423Test